Variant report

Variant	rs11861861
Chromosome Location	chr16:81449045-81449046
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16955319	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34441922	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34797363	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72835164	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72835165	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72835171	0.85[AMR][1000 genomes]
rs9888977	0.92[AFR][1000 genomes]
rs9889135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9889175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9889186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9889196	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81438000-81449600	Weak transcription	Right Atrium	heart
2	chr16:81444600-81449400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr16:81445800-81449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:81447800-81449200	Enhancers	Brain Germinal Matrix	brain
5	chr16:81447800-81449800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr16:81447800-81450000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:81447800-81450000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr16:81447800-81451200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr16:81448000-81449400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:81448000-81449800	Enhancers	Fetal Brain Male	brain
11	chr16:81448000-81450000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:81448000-81450000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:81448000-81450200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:81448000-81450600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr16:81448200-81449200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:81448200-81449400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr16:81448400-81449400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:81448400-81449400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:81448400-81451000	Enhancers	A549	lung
20	chr16:81448600-81449200	Enhancers	Fetal Brain Female	brain
21	chr16:81448600-81449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:81448600-81449600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:81448600-81451000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:81448600-81453200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:81448800-81449200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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